A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3841292



Internal ID11573893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123728790..123728790hg38UCSC Ensembl
chr12:124213337..124213337hg19UCSC Ensembl
chr12:122779290..122779290hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38117
hg19117
hg18117
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1436194
Supporting Variants
SamplesHuRef
Known GenesATP6V0A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3841292
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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